Mastocytosis

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Contents 1 More Specific Terms 2 Introduction 3 Classification 4 Pathology 5 Clinical-manifestations 6 Laboratory 7 Radiology 8 Differential-diagnosis 9 Management 10 More General Terms 11 Additional Terms 12 References

More Specific Terms

• diffuse cutaneous (pseudoxanthomatous) mastocytosis (DCM)
• mast cell leukemia
• mastocytoma
• systemic mastocytosis
• telangiectasia macularis eruptiva perstans (TMEP)
• urticaria pigmentosa (UP)

Introduction

• Abnormal accumulation of mast cells within the skin & at various systemic sites.

Classification

• generalized cutaneous mastocytosis

• urticaria pigmentosa
• telangiectasia macularis eruptiva perstans ( TMEP)
• diffuse cutaneous mastocytosis ( DCM)

• mastocytoma: frequently solitary
• systemic mastocytosis
• mast cell leukemia

Pathology

• epidermis is normal
• accumulation of normal-looking masts cells in the dermis
• mast cell infiltrates may be sparse & spindle-shaped or dense aggregates of cuboidal cells with perivascular or nodular distribution
• metachromatically stained granules within mast cells ( Giemsa or toluidine blue)
• pigmentation secondary to increase melanin in the basal layer of the epidermis
• mast cells granules contain several pharmacologically active substances

• histamine: may cause urticaria & GI symptoms
• prostaglandin D2: may cause flushing, cardiovascular symptoms, GI symptoms
• heparin: may cause excessive bleeding at sites of trauma
• neutral proteases & acid hydrolases: may cause patchy hepatic fibrosis & bone lesion

• bone marrow, liver, spleen, lymph nodes & GI tract may be involved

Clinical-manifestations

• stroking lesions causes it to itch
• various pharmaceutical agents may exacerbate symptoms

• alcohol, dextran, polymyxin B, morphine, codeine

• flushing may be accompanied by: headache, wheezing/ dyspnea diarrhea, syncope
• bath pruritis ( itching after hot bath)
• cardiovascular: tachycardia, hypertension, syncope
• GI: nausea/vomiting, diarrhea, malabsorption, portal hypertension
• neuropsychiatric: malaise, irritability
• respiratory system: rhinorrhea, wheezing
• headache

Laboratory

• complete blood count: ( systemic mastocytosis)

• anemia
• leukocytosis
• eosinophilia

• 24 hour urine histamine (36 +/- 15 ug, 2-3 x normal)
• serum tryptase may be increased
• bone marrow biopsy with stain for mast cells

• Giemsa, toluidine blue, chloral acetate esterase, immunochemical stains for tryptase

• skin biopsy

Radiology

• bone scan

• lytic bone lesions
• osteoporosis or osteosclerosis

• small bowel follow-through

Differential-diagnosis

• Flushing: carcinoid syndrome

Management

• avoidance of drugs that cause mast cell degranulation

• alcohol, dextran, polymixin B, morphine, codeine, scopalamine, D- tubocurarine, NSAIDs, antihistamines (H1 & H2 antagonists) (ref 1)

• antihistamines are initial treatment (ref 2)
• cromolyn 200 mg PO QID may ameliorate flushing, pruritis, urticaria, GI symptoms, neuropsychiatric symptoms
• corticosteroids for severe cases
• PUVA treatment: effective, but recurrence common
• interferon is investigational

More General Terms

• skin disease (dermatologic disorder, dermatopathy, dermatosis)
• syndrome

Additional Terms

• Darier's sign
• mast cell

References

1. Color Atlas & Synopsis of Clinical Dermatology, Common & Serious Diseases, 3rd ed, Fitzpatrick et al, McGraw Hill, NY, 1997, pg 718, 562-65
2. Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed) Lippincott-Raven, Philadelphia, 1998, pg 32, 178, 298
3. Mastocytosis [1]

mastocytosis